Canonical Allele Identifier: CA2663791470

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237336582-TAAATA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336585_237336589del , CM000664.2:g.237336585_237336589del	GRCh38
NC_000002.11:g.238245228_238245232del , CM000664.1:g.238245228_238245232del	GRCh37
NC_000002.10:g.237909967_237909971del	NCBI36
NG_008676.1:g.82621_82625del , LRG_473:g.82621_82625del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1213-55_1213-51del
ENST00000353578.9:c.7950-55_7950-51del	ENSP00000315873.4:n.7950-55_7950-51del
ENST00000682957.1:c.695-55_695-51del
ENST00000684508.1:n.835-55_835-51del
ENST00000295550.9:c.8568-55_8568-51del MANE Select	ENSP00000295550.4:n.8568-55_8568-51del
ENST00000295550.8:c.8568-55_8568-51del	ENSP00000295550.4:n.8568-55_8568-51del
ENST00000347401.7:c.6744-55_6744-51del	ENSP00000315609.4:n.6744-55_6744-51del
ENST00000353578.8:c.7950-55_7950-51del	ENSP00000315873.4:n.7950-55_7950-51del
ENST00000409809.5:c.7950-55_7950-51del	ENSP00000386844.1:n.7950-55_7950-51del
ENST00000472056.5:c.6747-55_6747-51del	ENSP00000418285.1:n.6747-55_6747-51del
ENST00000491769.1:n.5010-55_5010-51del
NM_004369.3:c.8568-55_8568-51del , LRG_473t1:c.8568-55_8568-51del	NP_004360.2:n.8568-55_8568-51del
NM_057166.4:c.6747-55_6747-51del	NP_476507.3:n.6747-55_6747-51del
NM_057167.3:c.7950-55_7950-51del	NP_476508.2:n.7950-55_7950-51del
XM_005246065.1:c.7968-55_7968-51del	XP_005246122.1:n.7968-55_7968-51del
XM_005246066.1:c.7347-55_7347-51del	XP_005246123.1:n.7347-55_7347-51del
XM_006712253.1:c.8067-55_8067-51del	XP_006712316.1:n.8067-55_8067-51del
XM_011510574.1:c.8565-55_8565-51del	XP_011508876.1:n.8565-55_8565-51del
XM_011510575.1:c.6162-55_6162-51del	XP_011508877.1:n.6162-55_6162-51del
XM_017003304.1:c.6162-55_6162-51del	XP_016858793.1:n.6162-55_6162-51del
XM_024452684.1:c.7347-55_7347-51del	XP_024308452.1:n.7347-55_7347-51del
NM_004369.4:c.8568-55_8568-51del MANE Select	NP_004360.2:n.8568-55_8568-51del
NM_057166.5:c.6747-55_6747-51del	NP_476507.3:n.6747-55_6747-51del
NM_057167.4:c.7950-55_7950-51del	NP_476508.2:n.7950-55_7950-51del